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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:GCNT7-CALR (FusionGDB2 ID:HG140687TG811)

Fusion Gene Summary for GCNT7-CALR

check button Fusion gene summary
Fusion gene informationFusion gene name: GCNT7-CALR
Fusion gene ID: hg140687tg811
HgeneTgene
Gene symbol

GCNT7

CALR

Gene ID

140687

811

Gene nameglucosaminyl (N-acetyl) transferase family member 7calreticulin
SynonymsC20orf105|dJ1153D9.2|gcntCRT|HEL-S-99n|RO|SSA|cC1qR
Cytomap('GCNT7')('CALR')

20q13.31

19p13.13

Type of geneprotein-codingprotein-coding
Descriptionbeta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7beta 1,6-N-acetylglucosaminyltransferasecalreticulinCRP55ERp60HACBPSicca syndrome antigen A (autoantigen Ro; calreticulin)calregulinendoplasmic reticulum resident protein 60epididymis secretory sperm binding protein Li 99ngrp60
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000243913, 
Fusion gene scores* DoF score2 X 2 X 1=424 X 30 X 7=5040
# samples 238
** MAII scorelog2(2/4*10)=2.32192809488736log2(38/5040*10)=-3.72935241005633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GCNT7 [Title/Abstract] AND CALR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGCNT7(55089631)-CALR(13049436), # samples:2
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCALR

GO:0000122

negative regulation of transcription by RNA polymerase II

8107809

TgeneCALR

GO:0006611

protein export from nucleus

11149926

TgeneCALR

GO:0017148

negative regulation of translation

14726956

TgeneCALR

GO:0033144

negative regulation of intracellular steroid hormone receptor signaling pathway

8107809

TgeneCALR

GO:0034504

protein localization to nucleus

15998798

TgeneCALR

GO:0045665

negative regulation of neuron differentiation

8107809

TgeneCALR

GO:0045892

negative regulation of transcription, DNA-templated

8107809

TgeneCALR

GO:0048387

negative regulation of retinoic acid receptor signaling pathway

8107809



check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for GCNT7-CALR

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for GCNT7-CALR


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for GCNT7-CALR


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:55089631/:13049436)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for GCNT7-CALR


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for GCNT7-CALR


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for GCNT7-CALR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for GCNT7-CALR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0001815Primary Myelofibrosis2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0026987Myelofibrosis2GENOMICS_ENGLAND;ORPHANET
TgeneC0033975Psychotic Disorders2PSYGENET
TgeneC0036337Schizoaffective Disorder2PSYGENET
TgeneC0040028Thrombocythemia, Essential2CTD_human;ORPHANET
TgeneC0349204Nonorganic psychosis2PSYGENET
TgeneC0004565Melanoma, B161CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0009075Melanoma, Cloudman S911CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0018598Melanoma, Harding-Passey1CTD_human
TgeneC0025205Melanoma, Experimental1CTD_human
TgeneC0027022Myeloproliferative disease1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0033937Psychoses, Drug1PSYGENET
TgeneC0036349Paranoid Schizophrenia1PSYGENET
TgeneC0036939Shared Paranoid Disorder1PSYGENET
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC3277671THROMBOCYTHEMIA 11GENOMICS_ENGLAND